nsv1192311
- Organism: Homo sapiens
- Study:nstd113 (Polyak et al. 2015)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:60,136
- Publication(s):Polyak et al. 2015
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 480 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 480 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 207 SVs from 17 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv1192311 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 5,053,720 | 5,113,855 |
nsv1192311 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 5,113,780 | 5,173,915 |
nsv1192311 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 5,013,640 | 5,073,775 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv7459068 | copy number loss | 46137 | Oligo aCGH | Probe signal intensity | nssv7465455, nssv7467543 |
nssv7460845 | copy number loss | 35959 | Oligo aCGH | Probe signal intensity | nssv7461517 |
nssv7461286 | copy number gain | 38330 | Oligo aCGH | Probe signal intensity | |
nssv7464776 | copy number loss | 38488 | Oligo aCGH | Probe signal intensity | 6 |
nssv7467448 | copy number gain | 43686 | Oligo aCGH | Probe signal intensity | nssv7459731, nssv7468130 |
nssv7471655 | copy number gain | 31415 | Oligo aCGH | Probe signal intensity | nssv7467359 |
nssv7474441 | copy number loss | 43525 | Oligo aCGH | Probe signal intensity | nssv7470242 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv7459068 | Remapped | Perfect | NC_000001.11:g.(?_ 5053720)_(5113855_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 5,053,720 | 5,113,855 |
nssv7460845 | Remapped | Perfect | NC_000001.11:g.(?_ 5053720)_(5113855_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 5,053,720 | 5,113,855 |
nssv7461286 | Remapped | Perfect | NC_000001.11:g.(?_ 5053720)_(5113855_ ?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 5,053,720 | 5,113,855 |
nssv7464776 | Remapped | Perfect | NC_000001.11:g.(?_ 5053720)_(5113855_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 5,053,720 | 5,113,855 |
nssv7467448 | Remapped | Perfect | NC_000001.11:g.(?_ 5053720)_(5113855_ ?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 5,053,720 | 5,113,855 |
nssv7471655 | Remapped | Perfect | NC_000001.11:g.(?_ 5053720)_(5113855_ ?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 5,053,720 | 5,113,855 |
nssv7474441 | Remapped | Perfect | NC_000001.11:g.(?_ 5053720)_(5113855_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 5,053,720 | 5,113,855 |
nssv7459068 | Remapped | Perfect | NC_000001.10:g.(?_ 5113780)_(5173915_ ?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 5,113,780 | 5,173,915 |
nssv7460845 | Remapped | Perfect | NC_000001.10:g.(?_ 5113780)_(5173915_ ?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 5,113,780 | 5,173,915 |
nssv7461286 | Remapped | Perfect | NC_000001.10:g.(?_ 5113780)_(5173915_ ?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 5,113,780 | 5,173,915 |
nssv7464776 | Remapped | Perfect | NC_000001.10:g.(?_ 5113780)_(5173915_ ?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 5,113,780 | 5,173,915 |
nssv7467448 | Remapped | Perfect | NC_000001.10:g.(?_ 5113780)_(5173915_ ?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 5,113,780 | 5,173,915 |
nssv7471655 | Remapped | Perfect | NC_000001.10:g.(?_ 5113780)_(5173915_ ?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 5,113,780 | 5,173,915 |
nssv7474441 | Remapped | Perfect | NC_000001.10:g.(?_ 5113780)_(5173915_ ?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 5,113,780 | 5,173,915 |
nssv7459068 | Submitted genomic | NC_000001.9:g.(?_5 013640)_(5073775_? )del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 5,013,640 | 5,073,775 | ||
nssv7460845 | Submitted genomic | NC_000001.9:g.(?_5 013640)_(5073775_? )del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 5,013,640 | 5,073,775 | ||
nssv7461286 | Submitted genomic | NC_000001.9:g.(?_5 013640)_(5073775_? )dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 5,013,640 | 5,073,775 | ||
nssv7464776 | Submitted genomic | NC_000001.9:g.(?_5 013640)_(5073775_? )del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 5,013,640 | 5,073,775 | ||
nssv7467448 | Submitted genomic | NC_000001.9:g.(?_5 013640)_(5073775_? )dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 5,013,640 | 5,073,775 | ||
nssv7471655 | Submitted genomic | NC_000001.9:g.(?_5 013640)_(5073775_? )dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 5,013,640 | 5,073,775 | ||
nssv7474441 | Submitted genomic | NC_000001.9:g.(?_5 013640)_(5073775_? )del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 5,013,640 | 5,073,775 |